Understanding Normal and Dysfunctional Gene Regulation through the Lens of the Hemoglobin Genes

Event Details

Type

Friday Lecture Series

Speaker(s)

Gerd A. Blobel, M.D., Ph.D., The Frank E. Weise III Professor of Pediatrics, division of hematology, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania

Speaker bio(s)

Insights into the molecular mechanisms of hemoglobin gene regulation have served as paradigms for understanding general principles of gene transcription and chromatin organization. The production of hemoglobin, the carrier of oxygen, occurs at high levels specifically in red blood cell precursors. The globin gene clusters are under developmental control with different genes expressed during embryonic, fetal, and postnatal life. Among the most common monogenic diseases are sickle cell disease and beta-thalassemia stemming from mutations in the adult-type beta-globin genes. Decades of studies aimed at understanding the molecular underpinnings of the switch from fetal to adult hemoglobin production have been fueled by the quest to reverse this switch due to the alleviating effects of elevated fetal hemoglobin levels on disease severity. Dr. Gerd A. Blobel will offer a broad overview of the remarkable history of this unexpectedly complex problem, highlighting landmark discoveries rooted in human genetics, molecular biology, GWAS, and the CRISPR revolution, while weaving in some of his lab's own contributions to the field. The collective efforts from generations of scientists have culminated in sophisticated new therapeutics. Yet, studies on globin gene regulation continue to yield insights into the regulatory network governing the hemoglobin switch and hold promise for improved treatments.

Gerd A. Blobel earned his M.D. degree summa cum laude from the University of Heidelberg, Germany, and a Ph.D. degree from Rockefeller University in New York. He carried out his postdoctoral work at Boston Children’s Hospital and Harvard Medical School. Dr. Blobel is the co-director of the Epigenetics Institute at the University of Pennsylvania and co-director of the Spatial and Functional Genomics Program at Children’s Hospital of Philadelphia. Dr. Blobel has been continually funded by the NIH since arriving at Penn and held an NIH MERIT award. In 2014 he won the Stanley N. Cohen Biomedical Research Award, and in 2015 received the Children's Hospital of Philadelphia Mentor Award. He was elected to the American Society for Clinical Investigation (2004) and the Association of American Physicians (2008).

FLS lectures will take place in Caspary Auditorium and virtually via Zoom. We recommend virtual participants log out of VPN prior to logging in to Zoom. Please do not share the link or post on social media. This talk will be recorded for the RU community.

Open to

Tri-Institutional